| H01193 | |
| H番号 | H01193 |
| 名称 | 家族性腫瘍状石灰化症 |
| 概要 | Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). hFTC is characterized by increased re-absorption of phosphate through the renal proximal tubule, resulting in elevated phosphate concentration and deposition of calcified deposits in cutaneous and subcutaneous tissues, occasionally, in visceral organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. nFTC is characterized by absence of metabolic abnormalities. nFTC has been found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (HFTC1) GALNT3 [HSA:2591] [KO:K00710] (HFTC2) FGF23 [HSA:8074] [KO:K22428] (HFTC3) KL [HSA:9365] [KO:K14756] (NFTC) SAMD9 [HSA:54809] [KO:K23949] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C54.1 ICD-10: M11.2 MeSH: C566870 C566473 OMIM: 211900 617993 617994 610455 |
| 文献 | PMID:19865099 著者 Sprecher E タイトル Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. 雑誌 J Invest Dermatol 130:652-60 (2010) DOI:10.1038/jid.2009.337 PMID:22142751 著者 Farrow EG, Imel EA, White KE タイトル Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho). 雑誌 Best Pract Res Clin Rheumatol 25:735-47 (2011) DOI:10.1016/j.berh.2011.10.020 PMID:19013236 著者 Chefetz I, Sprecher E タイトル Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. 雑誌 Biochim Biophys Acta 1792:847-52 (2009) DOI:10.1016/j.bbadis.2008.10.008 PMID:15133511 (GALNT3) 著者 Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E タイトル Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 雑誌 Nat Genet 36:579-81 (2004) DOI:10.1038/ng1358 PMID:15590700 (FGF23) 著者 Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B タイトル An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 雑誌 Hum Mol Genet 14:385-90 (2005) DOI:10.1093/hmg/ddi034 PMID:17710231 (KL) 著者 Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ タイトル A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 雑誌 J Clin Invest 117:2684-91 (2007) DOI:10.1172/JCI31330 PMID:16960814 (SAMD9) 著者 Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E タイトル A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. 雑誌 Am J Hum Genet 79:759-64 (2006) DOI:10.1086/508069 |